• Gene id: 57599

Gene Summary

• Gene Symbol: WDR48   Gene   UCSC   Ensembl
• Aliases: P80, SPG60, UAF1
• Gene name: WD repeat domain 48
• Alternate names: WD repeat-containing protein 48, USP1 associated factor 1, WD repeat endosomal protein, testicular tissue protein Li 224,
• Gene location: 3p22.2 (39052001: 39096670)     Exons: 22     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated
• OMIM: 612167

Protein Summary

• Protein general information: Q8TAF3  
  • Name: WD repeat containing protein 48 (USP1 associated factor 1) (WD repeat endosomal protein) (p80)
  • Length: 677  
  • Mass: 76210
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAAHHRQNTAGRRKVQVSYVIRDEVEKYNRNGVNALQLDPALNRLFTAGRDSIIRIWSVNQHKQDPYIASMEHHT
  DWVNDIVLCCNGKTLISASSDTTVKVWNAHKGFCMSTLRTHKDYVKALAYAKDKELVASAGLDRQIFLWDVNTLT
  ALTASNNTVTTSSLSGNKDSIYSLAMNQLGTIIVSGSTEKVLRVWDPRTCAKLMKLKGHTDNVKALLLNRDGTQC
  LSGSSDGTIRLWSLGQQRCIATYRVHDEGVWALQVNDAFTHVYSGGRDRKIYCTDLRNPDIRVLICEEKAPVLKM
  ELDRSADPPPAIWVATTKSTVNKWTLKGIHNFRASGDYDNDCTNPITPLCTQPDQVIKGGASIIQCHILNDKRHI
  LTKDTNNNVAYWDVLKACKVEDLGKVDFEDEIKKRFKMVYVPNWFSVDLKTGMLTITLDESDCFAAWVSAKDAGF
  SSPDGSDPKLNLGGLLLQALLEYWPRTHVNPMDEEENEVNHVNGEQENRVQKGNGYFQVPPHTPVIFGEAGGRTL
  FRLLCRDSGGETESMLLNETVPQWVIDITVDKNMPKFNKIPFYLQPHASSGAKTLKKDRLSASDMLQVRKVMEHV
  YEKIINLDNESQTTSSSNNEKPGEQEKEEDIAVLAEEKIELLCQDQVLDPNMDLRTVKHFIWKSGGDLTLHYRQK
  ST

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  IPR021772  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 5CVL 5CVN 5CVO 5K1A 5K1B 5K1C 5L8E 5L8W 6JLQ
  • PDBsum: 5CVL 5CVN 5CVO 5K1A 5K1B 5K1C 5L8E 5L8W 6JLQ
  • DIP: 50841
  • STRING: ENSP00000307491
• Other Databases: GeneCards:  WDR48  Malacards:  WDR48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903003	positive regulation of protein deubiquitination	IBA	biological process
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0042769	DNA damage response, detection of DNA damage	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0072520	seminiferous tubule development	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:1902525	regulation of protein monoubiquitination	IEA	biological process
GO:0005770	late endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray